Hereditary myotonia in American Bulldog associated with a novel frameshift mutation in the CLCN1 gene.

Hereditary myotonia (HM) is a genetic disorder that occurs due to mutations in the chloride channel and results in delayed relaxation of the skeletal muscles. HM has been described in 12 dog breeds, and in five of them, molecular studies of this disorder were performed and mutations in the CLCN1 gene were described. In this study, an affected American Bulldog with HM clinically characterized by muscle hypertrophy, myotonic discharges, and nondystrophic myotonia with a "warm-up" phenomenon was evaluated, and the candidate canine CLCN1 gene was sequenced. The molecular analysis revealed a frameshift mutation NM_001003124.2:c.436_437insCTCT that resulted in a frameshift and a premature stop codon NP_001003124.1:pTyr146SerfsTer49 . Two aberrant alternative CLCN1 transcripts were observed in an affected dog, the expected transcript with the 4 bp insertion, NM_001003124.2:r.436_437insctct, and an unexpected transcript containing parts of intron 6 in addition to the insertion in exon 4, NM_001003124.2:[r.436_437insctct;r.774_775ins79]. In conclusion, the frameshift mutation in the CLCN1 gene is associated with autosomal recessive HM in American Bulldog and this study constitutes the first description of the disease in this breed.

Potencial evocado visual em cães e ovinos / Visual evoked potential in dogs and sheep

O potencial evocado visual (PEV) é técnica eletrodiagnóstica que permite avaliação das vias visuais. O PEV de 20 cães e 20 ovinos adultos, de ambos os sexos, foram obtidos para estudo normativo. Foram utilizados eletrodos de agulha monopolar posicionados em O1 e O2 (ativos), em Fpz (referência comum) e em Cz (terra). O estímulo foi na forma de flash a 1Hz. Dezessete cães e 17 ovinos foram incluídos no estudo, pois apresentaram potenciais auditivos com boa qualidade técnica. Os resultados da avaliação dos dois olhos foram agrupados, totalizando 34 exames em cada espécie. O achado mais consistente em todos os exames foi uma deflexão eletropositiva, com latência média de 55,4ms em cães (P55) e 63,75ms em ovinos (P63). Outras duas ondas eletronegativas também foram identificadas: N31 e N75 em cães; e N42 e N86 em ovinos. A metodologia utilizada neste estudo permitiu obtenção de potenciais visuais com pequena variabilidade, sendo útil para avaliação de animais com suspeita de alteração nas vias visuais centrais.(AU)

The visual evoked potential (VEP) is an electro-diagnostic technique that allows assessment of visual pathways. The VEP from 20 adult dogs and 20 adult sheep of both gender was obtained for normative study. Monopolar electrode needles were placed in O1 and O2 (active), Fpz (common reference) and Cz (ground). The stimuli were flash at 1Hz. Seventeen dogs and 17 sheep were included in the study because they had auditory potentials with good technical quality. The results from both eyes were grouped, totaling 34 results in each species. The most consistent result in all tests was an electropositive deflection, with a mean latency 55.4ms in dogs (P55) and 63.75ms in sheep (P63). Two negative deflections were also identified: N31 and N75 in dogs, and N42 and N86 in sheep. The methodology used in this study allowed to obtain potential similar to those described in other studies, with little variability, and is useful for evaluation of animals with suspected changes in the central visual pathways.(AU)